Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. [ http://www.ncbi.nlm.nih.gov/pubmed/22739337 ]
Synonyms: ichthyoses fish scale disease DOC disorder of cornification ichthyosis ichthyosis (disease) fish skin disease
Term information
- Orphanet:79354 (MONDO:equivalentTo)
- GARD:18985 (Orphanet:79354)
- UMLS:C0020757 (Orphanet:79354/e)
- NCIT:C84776 (MONDO:equivalentTo)
- HP:0008064 (MONDO:otherHierarchy)
- MESH:D007057 (Orphanet:79354/e)
- MedDRA:10021198 (Orphanet:79354/e)
- DOID:1697 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/2114
https://github.com/monarch-initiative/mondo/pull/2110
Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails.
http://purl.obolibrary.org/obo/DOID_1697
http://linkedlifedata.com/resource/umls/id/C0020757
http://identifiers.org/mesh/D007057
http://purl.obolibrary.org/obo/NCIT_C84776
http://www.orpha.net/ORDO/Orphanet_79354